-
1
-
-
0030763856
-
Microcytic anemia mice have a mutation in Nramp2, a candidate iron transporter gene
-
Fleming MD, Trenor CC, Su MA, et al. Microcytic anemia mice have a mutation in Nramp2, a candidate iron transporter gene. Nat Genet. 1997;16:383-386.
-
(1997)
Nat Genet
, vol.16
, pp. 383-386
-
-
Fleming, M.D.1
Trenor, C.C.2
Su, M.A.3
-
2
-
-
0032477866
-
Nramp2 is mutated in the anemic Begrade (b) rat: Evidence of a role for Nramp2 in endosomal iron transport
-
U S A
-
Fleming MD, Romano MA, Su MA, Garrick LM, Andrews NC. Nramp2 is mutated in the anemic Begrade (b) rat: evidence of a role for Nramp2 in endosomal iron transport. Proc Natl Acad Sci U S A. 1998;95:1148-1153.
-
(1998)
Proc Natl Acad Sci
, vol.95
, pp. 1148-1153
-
-
Fleming, M.D.1
Romano, M.A.2
Su, M.A.3
Garrick, L.M.4
Andrews, N.C.5
-
3
-
-
0030755366
-
Cloning and characterization of a mammalian proton-coupled metal-ion transporter
-
Gunshin H, Mackenzie B, Berger UV, et al. Cloning and characterization of a mammalian proton-coupled metal-ion transporter. Nature. 1997;388:482-487.
-
(1997)
Nature
, vol.388
, pp. 482-487
-
-
Gunshin, H.1
Mackenzie, B.2
Berger, U.V.3
-
4
-
-
0033564656
-
Cellular and subcellular localization of the Nramp2 iron transporter in the intestinal brush border and regulation by dietary iron
-
Cannone-Hergaux S, Gruenheid S, Ponka P, Gros P. Cellular and subcellular localization of the Nramp2 iron transporter in the intestinal brush border and regulation by dietary iron. Blood. 1999;93:4406-4417.
-
(1999)
Blood
, vol.93
, pp. 4406-4417
-
-
Cannone-Hergaux, S.1
Gruenheid, S.2
Ponka, P.3
Gros, P.4
-
5
-
-
0032530922
-
The G185R mutation disrupts function of the iron transporter Nramp2
-
Su M, Trenor CC, Fleming JC, Fleming MD, Andrews NC. The G185R mutation disrupts function of the iron transporter Nramp2. Blood. 1998;92:2157-2163.
-
(1998)
Blood
, vol.92
, pp. 2157-2163
-
-
Su, M.1
Trenor, C.C.2
Fleming, J.C.3
Fleming, M.D.4
Andrews, N.C.5
-
6
-
-
4444227596
-
Molecular and cellular mechanisms underlying iron transport deficiency in microcytic anemia
-
Touret N, Martin-Orozco N, Paroutis P, et al. Molecular and cellular mechanisms underlying iron transport deficiency in microcytic anemia. Blood. 2004;104:1526-1533
-
(2004)
Blood
, vol.104
, pp. 1526-1533
-
-
Touret, N.1
Martin-Orozco, N.2
Paroutis, P.3
-
7
-
-
0035895096
-
Characterization of the iron transporter DMT1 (Nramp2/DCT1) in red blood cells of normal and anaemic mk/mk mice
-
Cannone-Hergaux S, Zhang AS, Ponka P, Gros P. Characterization of the iron transporter DMT1 (Nramp2/DCT1) in red blood cells of normal and anaemic mk/mk mice. Blood. 2001;98:3823-3830.
-
(2001)
Blood
, vol.98
, pp. 3823-3830
-
-
Cannone-Hergaux, S.1
Zhang, A.S.2
Ponka, P.3
Gros, P.4
-
8
-
-
2342447226
-
Severe hypochromic microcytic anemia caused by a congenital defect of the iron transporter pathway in erythroid cells
-
Priwitzerova M, Pospisilova D, Prchal JT, et al. Severe hypochromic microcytic anemia caused by a congenital defect of the iron transporter pathway in erythroid cells. Blood. 2004;103:3991-3992.
-
(2004)
Blood
, vol.103
, pp. 3991-3992
-
-
Priwitzerova, M.1
Pospisilova, D.2
Prchal, J.T.3
-
9
-
-
12844260664
-
Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload
-
Mims MP, Guan Y, Pospisilova D, et al. Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. Blood. 2005;105:1337-1342.
-
(2005)
Blood
, vol.105
, pp. 1337-1342
-
-
Mims, M.P.1
Guan, Y.2
Pospisilova, D.3
-
10
-
-
0034584616
-
Recombinant erythropoietin therapy as an alternative to blood transfusions in infants with hereditary spherocytosis
-
Tchernia G, Delhommeau F, Perrotta S, et al. Recombinant erythropoietin therapy as an alternative to blood transfusions in infants with hereditary spherocytosis. Hematol J. 2000;1:146-152.
-
(2000)
Hematol J
, vol.1
, pp. 146-152
-
-
Tchernia, G.1
Delhommeau, F.2
Perrotta, S.3
-
11
-
-
0000161330
-
Liver iron susceptometry
-
Andrae W, Nowak H, eds. Berlin, Germany: Wiley-VHC
-
Fischer R. Liver iron susceptometry. In: Andrae W, Nowak H, eds. Magnetism in Medicine - a Handbook. Berlin, Germany: Wiley-VHC; 1998:286-301.
-
(1998)
Magnetism in Medicine - A Handbook
, pp. 286-301
-
-
Fischer, R.1
-
12
-
-
0020465049
-
Magnetic-susceptibility measurement of human iron stores
-
Brittenham GM, Farrell DE, Harris JW, et al. Magnetic-susceptibility measurement of human iron stores. N Engl J Med. 1982;307:1671-1675.
-
(1982)
N Engl J Med
, vol.307
, pp. 1671-1675
-
-
Brittenham, G.M.1
Farrell, D.E.2
Harris, J.W.3
-
13
-
-
0034601375
-
Hepatic iron concentration and total body iron stores in thalassemia major
-
Angelucci E, Brittenham GM, McLaren CE, et al. Hepatic iron concentration and total body iron stores in thalassemia major. N Engl J Med. 2000;343:327-331.
-
(2000)
N Engl J Med
, vol.343
, pp. 327-331
-
-
Angelucci, E.1
Brittenham, G.M.2
McLaren, C.E.3
-
14
-
-
0024556046
-
Hepato-cellular transferrin receptor expression in secondary siderosis
-
Sciot R, van Eyken P, Facchetti F, et al. Hepato-cellular transferrin receptor expression in secondary siderosis. Liver. 1989;9:52-61.
-
(1989)
Liver
, vol.9
, pp. 52-61
-
-
Sciot, R.1
Van Eyken, P.2
Facchetti, F.3
-
16
-
-
0032959574
-
Transferrin receptor is necessary for development of erythrocytes and the nervous system
-
Levy JE, Jin O, Fujiwara Y, et al. Transferrin receptor is necessary for development of erythrocytes and the nervous system. Nat Genet. 1999;21:396-399.
-
(1999)
Nat Genet
, vol.21
, pp. 396-399
-
-
Levy, J.E.1
Jin, O.2
Fujiwara, Y.3
-
17
-
-
0037105495
-
X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction
-
Yu C, Niakan KK, Matsushita M, Stamatoyannopoulos G, Orkin SH, Raskind WH. X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction. Blood. 2002;100:2040-2045.
-
(2002)
Blood
, vol.100
, pp. 2040-2045
-
-
Yu, C.1
Niakan, K.K.2
Matsushita, M.3
Stamatoyannopoulos, G.4
Orkin, S.H.5
Raskind, W.H.6
-
18
-
-
0032104739
-
The human Nramp2 gene: Characterization of the gene structure, alternative splicing, promoter region and polymorphisms
-
Lee PL, Gelbart T, West C, Halloran C, Beutler E. The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms. Blood Cells Mol Dis. 1998;24:199-215.
-
(1998)
Blood Cells Mol Dis
, vol.24
, pp. 199-215
-
-
Lee, P.L.1
Gelbart, T.2
West, C.3
Halloran, C.4
Beutler, E.5
-
19
-
-
30144444049
-
Functional consequences of the human DMT1 mutation on protein expression and iron uptake
-
May 22-26, Prague, Czech Republic. Abstract 126
-
Priwitzerova M, Pospsilova D, Sheftel AD, Dikovy V, Ponka P. Functional consequences of the human DMT1 mutation on protein expression and iron uptake. Presented at: BioIron 2005: First Congress of the International BioIron Society; May 22-26, 2005; Prague, Czech Republic. Abstract 126.
-
(2005)
BioIron 2005: First Congress of the International BioIron Society
-
-
Priwitzerova, M.1
Pospsilova, D.2
Sheftel, A.D.3
Dikovy, V.4
Ponka, P.5
-
20
-
-
0036207384
-
Listening to silence and understanding nonsense: Exonic mutations that affect splicing
-
Carteggi L, Chew S, Krainer AR. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet. 2002;3:285-298.
-
(2002)
Nat Rev Genet
, vol.3
, pp. 285-298
-
-
Carteggi, L.1
Chew, S.2
Krainer, A.R.3
-
21
-
-
18244399587
-
SLC11A2 is required for intestinal absorption and erythropoiesis but dispensable in placenta and liver
-
Gunshin H, Fujiwara Y, Custodio AO, Direnzo C, Robine S, Andrews N. SLC11A2 is required for intestinal absorption and erythropoiesis but dispensable in placenta and liver. J Clin Invest. 2005;115:1258-1266.
-
(2005)
J Clin Invest
, vol.115
, pp. 1258-1266
-
-
Gunshin, H.1
Fujiwara, Y.2
Custodio, A.O.3
Direnzo, C.4
Robine, S.5
Andrews, N.6
-
22
-
-
30144441847
-
Consequences of DMT1 mutation on proliferation and hemoglobinization of erythroid progenitors in vitro
-
Priwitzerova M, Pospisilova D, Indrak K, Ponka P, Divoky V. Consequences of DMT1 mutation on proliferation and hemoglobinization of erythroid progenitors in vitro [abstract]. Blood. 2004;104:3190.
-
(2004)
Blood
, vol.104
, pp. 3190
-
-
Priwitzerova, M.1
Pospisilova, D.2
Indrak, K.3
Ponka, P.4
Divoky, V.5
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